Genes in panel

Hereditary ataxia - adult onset

Gene: ATP7B

Green List (high evidence)

ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

In Sheffield panel. Tremors are a feature of Wilsons disease. 837 DM in HGMD
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Well described
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease, 277900

History Filter Activity

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to ATP7B.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Wilson disease, 277900 for gene: ATP7B

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP7B.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ATP7B.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

18 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: ATP7B.

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ATP7B was added gene: ATP7B was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900